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| created at |
2024-09-23 16:23:50 UTC |
| updated at |
2024-09-23 18:22:39 UTC |
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Terms for rare diseases as defined in ORDO.
The entries were initially sourced from the ORDO version 2024-07-03 as stored in BioPortal.
Namespace: http://www.orpha.net/ORDO/
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20,514 entries
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There is 0 pattern entry.
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Dup(22)(q11)
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Orphanet_1727 |
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PFIC
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Orphanet_172 |
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Duplication 22q11.2
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Orphanet_1727 |
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Trisomy 22q11.2
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Orphanet_1727 |
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Mosaic trisomy 2
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Orphanet_1723 |
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Mosaic trisomy 20
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Orphanet_1724 |
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Mosaic trisomy chromosome 2
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Orphanet_1723 |
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Mosaic trisomy chromosome 20
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Orphanet_1724 |
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Progressive familial intrahepatic cholestasis
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Orphanet_172 |
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Trisomy 2 mosaicism
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Orphanet_1723 |
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Trisomy 20 mosaicism
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Orphanet_1724 |
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22q11.2 duplication syndrome
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Orphanet_1727 |
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22q11.2 microduplication syndrome
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Orphanet_1727 |
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Congenital myopathy with cores
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Orphanet_172976 |
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